Clinical Manifestations

The clinical manifestations of Pompe disease may present individually or as a constellation of symptoms, depending on the patient.

Common clinical manifestations of Infantile-Onset Pompe Disease

Common clinical manifestations of Late-Onset Pompe Disease

The following are among the most common signs and symptoms recorded in the literature for the two phenotypes. It is not yet known whether cognitive function is affected in patients with infantile-onset Pompe disease; however data is now being collected. There are no data to suggest that patients with late-onset disease are cognitively impaired. 1

In the infantile-onset form, the signs and symptoms tend to present swiftly, while in the late-onset form, the disease is more slowly progressive.

Learn more about the Natural History of Pompe disease

Below is a more comprehensive list of possible symptoms of the infantile-onset form.

Infantile-Onset Form:^{2, 3, 4}

Progressive muscle weakness
Profound hypotonia
Macroglossia (and in some cases, protrusion of the tongue)
Cardiomegaly (massive) and/or cardiac failure
Respiratory insufficiency/respiratory failure
Failure to meet or loss of achieved motor milestones
Hepatomegaly (moderate)
Difficulty swallowing, sucking, and/or feeding
Laxity of facial muscles
Areflexia

Below is a more comprehensive list of possible symptoms of the late-onset form.

Late-Onset Form:^{5, 6}

Progressive proximal muscle weakness, especially in the trunk
Progressive muscle weakness in the lower limbs
Respiratory insufficiency
Exercise intolerance
Exertional dyspnea
Orthopnea
Sleep apnea
Morning headaches
Somnolence
Lordosis and/or scoliosis
Hypotonia
Macroglossia (uncommon)
Difficulty chewing or swallowing
Increased frequency of respiratory infections
Decreased deep tendon reflexes
Gowers sign
Lower back pain
Failure to meet motor milestones (children)

References

1. Hirschhorn, Rochelle and Arnold J. J. Reuser. Glycogen Storage Disease Type II: Acid Alpha-Glucosidase (Acid Maltase) Deficiency. In: Scriver C, Beaudet A, Sly W, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease. 8th Edition. New York: McGraw-Hill; 2001; 3389-3420.

2. Hirschhorn, Rochelle and Arnold J. J. Reuser. Glycogen Storage Disease Type II: Acid Alpha-Glucosidase (Acid Maltase) Deficiency. In: Scriver C, Beaudet A, Sly W, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease. 8th Edition. New York: McGraw-Hill; 2001; 3389-3420.

3. King, Frank J. Acid Maltase Deficiency Myopathy. eMedicine Specialties. Available at: http://www.emedicine.com/pmr/topic2.htm. Accessed September 7, 2005.

4. Van den Hout HMP. The natural course of infantile Pompe’s disease: 20 original cases compared with 133 cases from the literature. Pediatr 2003 Aug; 112 (2): 332-340.

5. King, Frank J. Acid Maltase Deficiency Myopathy. eMedicine Specialties. Available at: http://www.emedicine.com/pmr/topic2.htm. Accessed September 7, 2005.

6. Ibrahim, Jennifer. Glycogen Storage Disease Type II. eMedicine Specialties. Available at: http://www.emedicine.com/ped/topic1866.htm. Accessed August 22, 2005.

7. Kishnani, Priya. Data on File.